Variant: rs193186112

present in Gene: AGL present in Chromosome: 1 Position on Chromosome: 99861676 Alleles of this Variant: C/T

rs193186112 in AGL gene and Glycogen Storage Disease IIIA PMID 20648714 2010 Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.

PMID 22899091 2013 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.

rs193186112 in AGL gene and Glycogen Storage Disease Type III PMID 10655153 2000 Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.

PMID 22899091 2013 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.